Article

Loss of REP1 impacts choroidal melanogenesis in choroideremia

2023-07-20

Abstract excerpt

Choroideremia (CHM) is a rare X-linked chorioretinal dystrophy affecting the photoreceptors, retinal pigment epithelium (RPE) and choroid, however, the involvement of the choroid in disease progression is not fully understood. CHM is caused by mutations in the CHM gene, encoding the ubiquitously expressed Rab escort protein 1 (REP1). REP1 plays an important role in intracellular trafficking of vesicles, including...

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Literature Corpus work: f7ba3cf6-7a3c-547f-a2a3-4d27434cd7d4
DOI: 10.1101/2023.07.20.549875

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